A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5506179



Internal ID282932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:33289601..33549410hg38UCSC Ensembl
chr15:33581802..33841611hg19UCSC Ensembl
Cytoband15q13.3
Allele length
AssemblyAllele length
hg38259810
hg19259810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17700412
Samples
Known GenesRYR3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5506179
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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